ClinVar Miner

List of variants reported as likely benign for Neurodevelopmental abnormality

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly) rs1360515765 0.00001
NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr) rs2063114288
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser) rs2050947096
NM_001100399.2(PDS5A):c.2153+1G>A rs1720512441
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala) rs1462714993
NM_001127644.2(GABRA1):c.1315T>C (p.Trp439Arg) rs1755416622
NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg) rs1694511803
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln) rs1038557470
NM_001270.4(CHD1):c.530A>G (p.Glu177Gly) rs1751687577
NM_001273.5(CHD4):c.4980A>G (p.Lys1660=) rs1948119039
NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly) rs370055977
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn) rs1202158646
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001376.5(DYNC1H1):c.8574C>G (p.Phe2858Leu) rs778246294
NM_001376.5(DYNC1H1):c.9229G>C (p.Asp3077His) rs2048466928
NM_001854.4(COL11A1):c.3304G>A (p.Gly1102Arg) rs1658599034
NM_001999.4(FBN2):c.3848-1G>A rs1750805468
NM_002430.3(MN1):c.2986G>C (p.Gly996Arg) rs1933323211
NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln) rs531979350
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu) rs2051853150
NM_005157.6(ABL1):c.929C>T (p.Pro310Leu) rs1831276610
NM_005445.4(SMC3):c.1121A>C (p.Asp374Ala) rs1861074510
NM_006164.5(NFE2L2):c.1033G>C (p.Gly345Arg) rs747179142
NM_006236.3(POU3F3):c.1480G>T (p.Gly494Trp) rs1288967379
NM_006445.4(PRPF8):c.6791C>T (p.Ser2264Leu) rs1911033774
NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser) rs539376929
NM_006885.4(ZFHX3):c.320C>A (p.Pro107His) rs145239736
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser) rs1685074140
NM_007118.4(TRIO):c.3166G>T (p.Val1056Leu) rs755777586
NM_015215.4(CAMTA1):c.122A>G (p.His41Arg) rs1646960047
NM_015215.4(CAMTA1):c.4355G>T (p.Ser1452Ile) rs2096846819
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met) rs1357621164
NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe) rs1317227596
NM_018896.5(CACNA1G):c.6086C>T (p.Pro2029Leu) rs2052945610
NM_020066.5(FMN2):c.3825G>T (p.Gly1275=) rs901699283
NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg) rs1831337271
NM_020928.2(ZSWIM6):c.2569G>A (p.Glu857Lys) rs1749677033
NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly) rs775055611
NM_022893.4(BCL11A):c.431A>G (p.His144Arg) rs1449675152
NM_030632.3(ASXL3):c.3230C>G (p.Ala1077Gly) rs2067692361
NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe) rs1770051610
NM_031407.7(HUWE1):c.4183T>C (p.Ser1395Pro) rs2064095549
NM_031407.7(HUWE1):c.572A>G (p.Tyr191Cys) rs2066941837
NM_032538.3(TTBK1):c.735+1G>T rs1777362229
NM_130797.4(DPP6):c.1547+4A>G rs892160951
NM_152641.4(ARID2):c.1630G>C (p.Glu544Gln) rs1943489555
NM_182641.4(BPTF):c.3474C>A (p.Asn1158Lys) rs2062639532
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530

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